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ID 15969

What is Tay-Sachs?

Description:
Mutations in the HEX A gene cause a disorder called Tay-Sachs, where a person's nerve cells deteriorate and finally die. The HEX A protein is necessary in the breakdown of large molecules called GM2 gangliosides, which are used to make nerve cell membranes. If the HEX A protein is missing or not functioning well, the GM2 gangliosides build up and become toxic to the nerve cell.
Keywords:
nerve cell membranes,tay sachs,nerve cells,chromosome 15,gangliosides,hex,mutations,molecules,protein
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

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